Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs1801265 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 13 | ||
rs1057519753 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 9 | |||
rs12748152 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 8 | ||
rs1135401746 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 7 | |||
rs41307935 | 1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 3 | ||
rs637868 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 3 | ||
rs6684897 | 1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 | 3 | ||
rs2622849 | 1.000 | 0.120 | 1 | 102955788 | intron variant | T/A;C;G | snv | 1 | |||
rs343604 | 1.000 | 0.120 | 1 | 110716148 | intergenic variant | T/A;C | snv | 1 | |||
rs45461499 | 1.000 | 0.120 | 1 | 43363065 | missense variant | G/A;T | snv | 6.1E-04; 1.6E-03 | 1 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs144104656 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 3 | ||
rs149940960 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 3 | ||
rs17032980 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 3 | ||
rs1569175 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 1 | ||
rs60086424 | 1.000 | 0.120 | 2 | 52162981 | intron variant | C/G;T | snv | 1 | |||
rs6550253 | 1.000 | 0.120 | 3 | 34149739 | intron variant | G/A | snv | 0.12 | 3 | ||
rs78380171 | 0.925 | 0.120 | 3 | 86720838 | intergenic variant | A/G | snv | 6.6E-03 | 2 |